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A Narrative Review of Poland's Syndrome

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A Narrative Review of Poland's Syndrome Review Article A narrative review of Poland’s syndrome: theories of its genesis, evolution and its diagnosis and treatment Eman Awadh Abduladheem Hashim1,2^, Bin Huey Quek1,3,4^, Suresh Chandran1,3,4,5^ 1Department of Neonatology, KK Women’s and Children’s Hospital, Singapore, Singapore; 2Department of Neonatology, Salmanya Medical Complex, Manama, Kingdom of Bahrain; 3Department of Neonatology, Duke-NUS Medical School, Singapore, Singapore; 4Department of Neonatology, NUS Yong Loo Lin School of Medicine, Singapore, Singapore; 5Department of Neonatology, NTU Lee Kong Chian School of Medicine, Singapore, Singapore Contributions: (I) Conception and design: EAA Hashim, S Chandran; (II) Administrative support: S Chandran, BH Quek; (III) Provision of study materials: EAA Hashim, S Chandran; (IV) Collection and assembly: All authors; (V) Data analysis and interpretation: BH Quek, S Chandran; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: A/Prof. Suresh Chandran. Senior Consultant, Department of Neonatology, KK Women’s and Children’s Hospital, Singapore 229899, Singapore. Email: [email protected]. Abstract: Poland’s syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, “the subclavian artery supply disruption sequence” (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment. Keywords: Poland’s syndrome (PS); pectoralis muscle hypoplasia; vascular disruption sequence; breast hypoplasia; brachysyndactyly Submitted Oct 05, 2020. Accepted for publication Jan 29, 2021. doi: 10.21037/tp-20-320 View this article at: http://dx.doi.org/10.21037/tp-20-320 Introduction of pectoralis minor muscle in addition to brachysyndactyly of the ipsilateral hand, underdeveloped serratus anterior In his autopsy report, Alfred Poland expounded the muscle and remarkably small thoracic vessels (1,2). “deficiency of pectoral muscles” as deficient sternal and Absence of the sternal head of pectoralis major muscle is costal portions of the pectoralis major muscle and absence an essential feature of Poland’s syndrome (PS) and most ^ORCID: Eman Awadh Abduladheem Hashim, 0000-0002-4402-5301; Bin Huey Quek, 0000-0001-8891-5464; Suresh Chandran, 0000- 0001-5961-7441. © Translational Pediatrics. All rights reserved. Transl Pediatr 2021;10(4):1008-1019 | http://dx.doi.org/10.21037/tp-20-320 Translational Pediatrics, Vol 10, No 4 April 2021 1009 often it manifests also as ipsilateral thoracic cage and the forearm and hand (10). Later it was Thompson who upper limb anomalies. Other recognized features of PS identified the principal features of PS and summarized the include aplasia/hypoplasia of the pectoralis minor muscle complete spectrum of congenital anomalies (11). Baudinne and breast/nipple, rib anomalies, dextrocardia, urogenital et al. referred to Poland’s syndactyly as PS (12). Controversy anomalies and axillary alopecia (3). Clinical features of PS remains around the eponymous origin of PS (6,13). are phenotypically variable and manifestations are often subtle in infancy and early childhood delaying the diagnosis Etiopathogenesis and plan for intervention. This review aims to improve the understanding of PS among medical fraternity about its Researchers have been debating on the etiology of PS for genesis, spectrum of clinical manifestations, diagnostic tools more than three decades. Several theories and etiological and recent advances in therapeutic modalities. factors have been suggested. Being a congenital disorder, We extensively relied upon Medline and EMBASE birth defects occur due to an error in morphogenesis database search to obtain relevant papers and their cited resulting in malformations, deformations, or disruptions. references, in addition to our personal clinical experience Embryonic or fetal vascular disruption can cause disruption and publications of PS with lung herniation and eventration sequences and the incidence was reported to be 0.1/1,000 of diaphragm to prepare this review (4). We present the infants born with more than one structural anomaly (14). following article in accordance with the Narrative Review Vascular disruption theory remains the most accepted reporting checklist (available at http://dx.doi.org/10.21037/ pathogenic mechanism. The likely pathogenesis of PS tp-20-320). may be due to disruption of development of the proximal subclavian artery and its branches that supply the pectoral muscles around 6th week of gestation. This further leads Historical perspective to deficient blood flow to the distal limb and pectoral PS was first described by Alfred Poland nearly 180 years region causing regional loss of tissue. Bavinck & Weaver ago based on an autopsy at Guy’s Hospital of a 27-year- presented a pathogenic hypothesis and introduced the term old ex-convict named George Elt (1). Several depictions called “the subclavian artery supply disruption sequence” about this musculoskeletal anomaly similar to that of Alfred (SASDS) to describe the disruption of embryonic vessels, Poland’s autopsy record predated the official publication in suggesting a common pathogenesis in PS, Klippel-Feil and Guy’s Hospital Reports [1841]. On 11th December 1803, Moebius syndromes (15). Predictable patterns of defects as “Citizen Marandel” presented in the second session of the a consequence of SASDS were described as follows: Société Anatomique de Paris a description of a woman with Absence of pectoralis major and ipsilateral breast congenital mammary absence and muscular atrophy (sterno- hypoplasia due to interruption of internal thoracic humeral and costo-coracoid) on the right side, similar to the artery flow. observations of Poland (5,6). Absence of pectoral muscles Terminal transverse limb defect following a alone was described earlier (7). In 1839, Froriep was the disruption of subclavian artery distal to the origin first to describe the paired absence of pectoral muscles and of internal thoracic artery. webbed digits (8). Even though Alfred Poland described the PS resulting from a disruption of subclavian artery characteristics of this syndrome, it was Patrick Clarkson, distal to the origin of the vertebral artery but a plastic and hand surgeon working at Guy’s Hospital, proximal to the origin of internal thoracic artery. London, who coined the term “Poland’s syndactyly” (2). Klippel-Feil syndrome caused by an interruption Clarkson noted a clear description of this paired deformity of blood flow through entire length or segments of in a review by Brown & McDowell who referred to Poland’s vertebral arteries. original report (9). Clarkson also retrieved the dissected Moebius syndrome resulting from early regression specimen of the hand by Poland from the Curator of the of the primitive trigeminal arteries and/or delayed Gordon Museum and confirmed the syndactyly between formation of or obstruction in basilar and/or the index and middle finger. Later, McDowell criticized the vertebral arteries. eponym and argued that “Poland hadn’t the foggiest notion Data of decreased size and low velocity flow of subclavian that the two deformities constituted a syndrome” because artery in PS supports SASDS theory (16). More evidence Tilston’s sketch of the dissected cadaver by Poland omitted in support of SASDS theory was noted in a 4-year-old girl © Translational Pediatrics. All rights reserved. Transl Pediatr 2021;10(4):1008-1019 | http://dx.doi.org/10.21037/tp-20-320 1010 Hashim et al. PS: theories of its genesis, evolution, and management with below knee right leg hypoplasia and ipsilateral toe osteogenic differentiation of fetal cartilage and cartilage- brachysyndactyly. Her Doppler evaluation revealed 50% bone interface could contribute to PS phenotype. Also, an reduction in femoral artery blood flow (17). Atasoy et al. increase in hexokinase activity (HK1) with 10p duplication has suggested that in a boy with PS, SASDS could have is known to cause CHI (32). caused the manifestations due to thrombosis of the fetal Association of renal with pectoralis major/minor microvasculature as they detected significant mutations in malformations
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